We did whole genome sequencing of a patient with synpolydactyly type I disease, the family we studies have eight affected persons with the same disease. We found mutaion in exon 1 of HOXD13 gene in al
50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array,
